Fugazzola Laura
IRCCS Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases, Milan and Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
Best Pract Res Clin Endocrinol Metab. 2023 Jan;37(1):101655. doi: 10.1016/j.beem.2022.101655. Epub 2022 Mar 31.
Medullary thyroid cancer (MTC) is a rare neuroendocrine disease, encompassing about 5% of all thyroid cancers. Due to its peculiar features, this rare tumour offers unique possibilities for translational research studies. It arises from neuroendocrine parafollicular cells in an endocrine organ, and appears as a nodule apparently indistinguishable from thyroid nodules. It has a very peculiar progression with micro metastases difficult to identify, often-remaining stable during years and suddenly undergoing a rapid and unrestrainable progression. Moreover, MTC is one of the neoplasms with the best genetic characterization either in its sporadic or familial form, providing a valuable background to test targeted drugs. In the era of precision medicine, this review aims to give an update on the diagnostic tools, the therapeutic options for advanced MTC, and the most promising opportunities for a personalized follow up.
甲状腺髓样癌(MTC)是一种罕见的神经内分泌疾病,约占所有甲状腺癌的5%。由于其独特的特征,这种罕见肿瘤为转化研究提供了独特的可能性。它起源于内分泌器官中的神经内分泌滤泡旁细胞,表现为一个与甲状腺结节明显难以区分的结节。它具有非常独特的进展过程,微转移难以识别,通常在数年中保持稳定,然后突然经历快速且无法抑制的进展。此外,MTC无论是散发性还是家族性形式,都是基因特征最好的肿瘤之一,为测试靶向药物提供了有价值的背景。在精准医学时代,本综述旨在更新关于诊断工具、晚期MTC的治疗选择以及个性化随访最有前景的机会等方面的内容。